Charlevoix-Saguenay syndrome

Classification according to ICD-10
G11.1	Early onset of cerebellar ataxia
ICD-10 online (WHO version 2019)

The Charlevoix-Saguenay syndrome or ARSACS , acronym for A utosomal - R ezessive S pastische A taxie Type C harlevoix- S aguenay, is a very rare congenital neurodegenerative disease with the eponymous main features.

The name refers to the Charlevoix region and the city of Saguenay in northeast Canada , where JP Buchard and his colleagues first described the disease in 1978.

distribution

In the Charlevoix-Saguenay region, the frequency is given as 1 in 1,500–2,000; outside of this, the frequency is not known.

Inheritance is autosomal - recessive .

root cause

The disease are mutations in the SACS - gene on chromosome 13 locus q12.12 based encoding Sacsin.

Clinical manifestations

Clinical criteria are:

Early onset cerebellar ataxia, in Canada between 12 and 18 months of age with gait disorders
Dysarthria and nystagmus
increasing spasticity
Pyramidal tract syndrome with increased patellar tendon reflexes and Babinski's sign
later added peripheral neuropathy

Furthermore, mitral valve prolapse , hollow foot and dysfunction of the bladder occur.

diagnosis

Medical imaging reveals atrophy of parts of the cerebellar worm and the spinal cord of the cervical spine , neurophysiology with signs of axonal and demyelinating neuropathy, decreased motor nerve conduction velocity .

Differential diagnosis

The following are to be distinguished:

Friedreich's ataxia , vitamin E deficiency ataxia and Troyer syndrome .

therapy

Treatment is symptomatic

literature

J. Palmio, M. Kärppä, P. Baumann, S. Penttilä, J. Moilanen, B. Udd: Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family . In: Clinical case reports. Vol. 4, No. 12, December 2016, pp. 1151–1156, doi: 10.1002 / ccr3.722 , PMID 27980752 , PMC 5134137 (free full text).
Y. Bouhlal, R. Amouri, G. El Euch-Fayeche, F. Hentati: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. In: Parkinsonism & related disorders. Vol. 17, No. 6, July 2011, pp. 418-422, doi: 10.1016 / j.parkreldis.2011.03.005 , PMID 21450511 (review).
MH Martin, JP Bouchard, M. Sylvain, O. St-Onge, S. Truchon: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients. In: AJNR. American journal of neuroradiology. Vol. 28, No. 8, September 2007, pp. 1606-1608, doi: 10.3174 / ajnr.A0603 , PMID 17846221 (review).

Individual evidence

^ Gene Reviews
↑ ^a ^b ^c Spastic ataxia type Charlevoix-Saguenay. In: Orphanet (Rare Disease Database).
↑ JP Bouchard, A. Barbeau, R. Bouchard, RW Bouchard: Autosomal recessive spastic ataxia of Charlevoix-Saguenay. In: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. Vol. 5, No. 1, February 1978, pp. 61-69, PMID 647499 .
^ Genetics Home Reference
↑ Spastic ataxia, Charlevoix-Saguenay type. In: Online Mendelian Inheritance in Man . (English)

[Gene-1] Gene Reviews

[Orpha-2] Spastic ataxia type Charlevoix-Saguenay. In: Orphanet (Rare Disease Database).

[3] JP Bouchard, A. Barbeau, R. Bouchard, RW Bouchard: Autosomal recessive spastic ataxia of Charlevoix-Saguenay. In: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. Vol. 5, No. 1, February 1978, pp. 61-69, PMID 647499 .

[ghr-4] Genetics Home Reference

[5] Spastic ataxia, Charlevoix-Saguenay type. In: Online Mendelian Inheritance in Man . (English)